Annotation Detail
Information
- Associated Genes
- MTOR
- Associated Variants
-
MTOR MUTATION
MTOR MUTATION - Associated Disease
- bladder carcinoma
- Source Database
- CIViC Evidence
- Description
- A case-study of a patient with urothelial carcinoma reported exceptional response (14 months) in a phase 1 study of Everolimus and Pazopanib. Mutations E2014K and E2419K were shown to be activating in-vitro.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/705
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2073
- Variant URL
- https://civic.genome.wustl.edu/links/variants/277
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Bladder Carcinoma
- Evidence Direction
- Supports
- Drug
- Everolimus,Pazopanib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 24625776
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Everolimus | Sensitivity | true |
| Pazopanib | Sensitivity | true |